Publications by authors named "Karlene P Mason"
Article Synopsis
- The study aimed to establish ultrasound baselines for spleen size in patients with homozygous sickle cell disease (HbSS) compared to normal controls with HbAA genotype.
- Ultrasonography of spleen length showed that while it was visible in all HbAA controls, it was only seen in about 52% of HbSS scans, with HbSS patients having significantly smaller spleens.
- Findings revealed an age-related decrease in spleen size among HbSS patients, slower decline associated with genetic factors inhibiting sickling, and introduced new standards for assessing splenic health and potential issues like red cell sequestration.
Objective: To report the diagnostic challenges of newborn screening for abnormal haemoglobins.
Setting: Cord blood samples from 13 hospitals in southwest Jamaica taken in 2008-2019.
Methods: Blood spots, collected from the umbilical cord, were analysed by high pressure liquid chromatography (HPLC) to reveal phenotypes for HbSS and HbCC, but genotype confirmation may require parental studies or gene sequencing.
Over the last 43 years, surveys of over 200,000 subjects in Jamaica have identified β-thalassemia (β-thal) mutations. In most, these genes were detected at birth in patients with sickle cell-β-thal and so the prevalence and distribution would not be influenced by subsequent clinical course. There were two newborn populations, 100,000 deliveries in the corporate area between 1973-1981 and 84,940 in south and western Jamaica between 2008-2016.
View Article and Find Full Text PDFGlobally, the majority of persons born with sickle cell disease do not have access to hydroxyurea or more expensive interventions. The objectives were to estimate the survival in homozygous sickle cell disease, unbiased by symptomatic selection and to ascertain the causes of death in a pre-hydroxyurea population. The utility of early life biomarkers and genetically determined phenotypes to predict survival was assessed.
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